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$Unique_ID{BRK04212}
$Pretitle{}
$Title{Seitelberger Disease}
$Subject{Seitelberger Disease Infantile Neuroaxonal Dystrophy }
$Volume{}
$Log{}
Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.
374:
Seitelberger Disease
** IMPORTANT **
It is possible the main title of the article (Seitelberger Disease) is
not the name you expected. Please check the SYNONYMS listing on the next
page to find alternate names and disorder subdivisions covered by this
article.
Synonyms
Infantile Neuroaxonal Dystrophy
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Seitelberger Disease is an inherited central nervous system disorder
usually beginning before the age of two years. Progressive muscular and
coordination difficulties, speech problems, vision deficits and impaired
brain function may occur with this disorder.
Symptoms
Children with Seitelberger Disease may experience difficulty in walking
and/or speaking. A decreased sensitivity to pain may develop in the legs and
trunk. Coordination may become impaired, decreased muscle tone,
"floppiness", muscle spasms (spasticity) and/or weakening of reflexes may
also occur. In later stages, involuntary rapid eye movement, progressive
vision problems and seizures can occur.
Causes
Seitelberger Disease is inherited as an autosomal recessive trait. Some
medical researchers believe that Seitelberger Disease may be the infantile
form of Hallervorden-Spatz Syndrome. (For more information on this disorder,
choose "Hallervorden" as your search term in the Rare Disease Database.)
Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother. In recessive disorders, the condition does not
appear unless a person inherits the same defective gene from each parent. If
one receives one normal gene and one gene for the disease, the person will be
a carrier for the disease, but usually will show no symptoms. The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent. Fifty percent of
their children will be carriers, but healthy as described above. Twenty-five
percent of their children will receive both normal genes, one from each
parent and will be genetically normal.
Affected Population
Seitelberger Disease usually begins before the age of two years. This
disorder affects males and females in equal numbers.
Related Disorders
Hallervorden-Spatz Disease is a disorder which causes degeneration of the
central nervous system. Usually beginning at about age eight, this disorder
may occur anytime between birth to twenty years of age. A person with
Hallervorden-Spatz Disease may develop slow steady muscle contractions
thereby distorting limbs, neck, face, mouth or trunk into certain unnatural
positions (Dystonia). Muscular rigidity (uncontrolled tightening of the
muscles) or spontaneous nonrepetitive slow writhing movements (usually of the
arms or legs) can also occur. Muscle spasms (Spasticity) may be present in
one-third of affected individuals.
Late Infantile Metachromatic Leukodystrophy usually affects children less
than two years of age. This disorder is characterized by muscle coordination
impairment, rigidity, mental deterioration and in some cases, convulsions.
It is inherited as an autosomal recessive trait. Much is known about the
origin of this disorder and genetic counseling is now possible.
(For more information on the above disorders, choose "Hallervorden,"
"Torsion Dystonia," and "Metachromatic Leukodystrophy" as your search terms
in the Rare Disease Database.)
Primary Optic Atrophy can be a symptom of Seitelberger Disease affecting
the eyes. Primary Optic Atrophy causes diminished visual acuity and
decreased ability to see light. Symptoms may be caused by degeneration,
shrinkage or disappearance of nerve fibers.
Therapies: Standard
Treatment of Seitelberger Disease is symptomatic and supportive. Genetic
counseling may be of benefit to families of patients with this disorder.
Services for visually and/or mobility impaired people may be of assistance to
people with Seitelberger Disease.
Therapies: Investigational
This disease entry is based upon medical information available through
February 1990. Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate. Please check with the agencies listed in the Resources section for
the most current information about this disorder.
Resources
For more information on Seitelberger Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Children's Brain Diseases Foundation For Research
350 Parnassus, Suite 900
San Francisco, CA 94117
(415) 566-5402
(415) 565-6259
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
(815) 896-3211
(800) 728-5483
Association Europeenne contre les Leucodystrophies
7 Rue Pasteur
54000 NANCY
France
National Ataxia Foundation
750 Twelve Oaks Center
15500 Wayzata Blvd.
Wayzata, MN 55391
(312) 473-7666
For information on genetics and genetic counseling referrals, please
contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
NEUROAXONAL DYSTROPHY IN CHILDHOOD. REPORT OF TWO SECOND COUSINS WITH
HALLERVORDEN-SPATZ DISEASE, AND A CASE OF SEITELBERGER'S DISEASE: K.
Kristensson, et. al.; Acta Paediatr Scand (Nov. 1982, issue 71(6)). Pp.
1045-1049.
HISTOLOGICAL AND ULTRASTRUCTURAL FEATURES OF DYSTROPHIC ISOCORTICAL AXONS
IN INFANTILE NEUROAXONAL DYSTROPHY (SEITELBERGER'S DISEASE): M.H. Mitchell,
et. al.; Acta Neuropathol (Berl) (1985, issue 66(2)). Pp. 89-97.